Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3

(2016) E. Barca et al.   CLINICAL GENETICS

Coenzyme Q10 restores oocyte mitochondrial function and fertility during reproductive aging

(2015) Assaf Ben-Meir et al.   AGING CELL

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

(2015) Katharina Danhauser et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rescue of primary ubiquinone deficiency due to a novelCOQ7defect using 2,4–dihydroxybensoic acid

(2015) Christoph Freyer et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis

(2015) Ying Wang et al.   Nature Communications

Dependence of Brown Adipose Tissue Function on CD36-Mediated Coenzyme Q Uptake

(2015) Courtney M. Anderson et al.   Cell Reports

Coenzyme Q supplementation or over-expression of the yeast Coq8 putative kinase stabilizes multi-subunit Coq polypeptide complexes in yeast coq null mutants

(2014) Cuiwen H. He et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

(2014) Mary O'Sullivan et al.   HUMAN MOLECULAR GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Mitochondrial respiration without ubiquinone biosynthesis

(2013) Ying Wang et al.   HUMAN MOLECULAR GENETICS

Peripheral neuropathy in mitochondrial disorders

(2013) Davide Pareyson et al.   LANCET NEUROLOGY

Molecular genetics of ubiquinone biosynthesis in animals

(2012) Ying Wang et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

(2012) L. Garcia-Corzo et al.   HUMAN MOLECULAR GENETICS

Overexpression of the Coq8 Kinase inSaccharomyces cerevisiae coqNull Mutants Allows for Accumulation of Diagnostic Intermediates of the Coenzyme Q6Biosynthetic Pathway

(2012) Letian X. Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The submitochondrial distribution of ubiquinone affects respiration in long-livedMclk1+/−mice

(2012) Jérôme Lapointe et al.   JOURNAL OF CELL BIOLOGY

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

(2012) Leonardo Salviati et al.   JOURNAL OF MEDICAL GENETICS

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

Coenzyme Q deficiency in muscle

(2011) Eva Trevisson et al.   CURRENT OPINION IN NEUROLOGY

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The role of DMQ9 in the long-lived mutant clk-1

(2011) Yu-Ying Yang et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

(2010) Darryl Y. Nishimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prolonged manganese exposure induces severe deficits in lifespan, development and reproduction possibly by altering oxidative stress response in Caenorhabditis elegans

(2009) Jing XIAO et al.   JOURNAL OF ENVIRONMENTAL SCIENCES

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS